New genetic link to inflammatory bowel diseases discovered

Sep 1 2008

A study which entailed scientists trawling through the genetic code of thousands of people, has revealed two new genes involved in childhood inflammatory bowel disease, a painful condition that includes Crohn's disease and ulcerative colitis (UC).

Inflammatory bowel disease (IBD) is a group of common inflammatory conditions affecting the large and small intestine involving both genetic and environmental triggers.

Crohn's disease can affect any part of the gastrointestinal tract, from mouth to anus, while UC affects only the colon and the rectum, but they are sometimes confused as the symptoms for both are similar - abdominal pain, vomiting, diarrhea, bright red blood in stools, weight loss and various associated complaints and both can lead to liver problems, arthritis, skin and eye problems.

Treatment usually depends on the severity of IBD and may call for immunosuppressing drugs to control the symptoms or some form of anti-inflammatory medication.

Steroids too are sometimes used to control disease flare ups and in severe cases surgery may be needed.

IBD can affect and limit the quality of life because of the pain, vomiting, diarrhea, and other socially unacceptable symptoms it causes; it is rarely fatal on its own and the goal of treatment is to achieve some form of remission.

Depending on the circumstances, flare ups may go away on their own or require medication and the time between attacks may be anywhere from weeks to years, and vary greatly between patients.

The study led by Professor Subra Kugathasan from the Medical College of Wisconsin has found two new genes that are linked with IBD in children.

The researchers say previous studies had already identified a genetic variation which accounted for a small portion of the overall genetic susceptibility for CD and an even smaller contribution to UC.

They suspected that examining the disease early on in children might identify additional genes associated with IBD.

They carried out a search in a group of 1,011 individuals with pediatric-onset IBD and 4,250 matched controls and compared their results and two new genes linked to IBD were revealed.

They believe their discovery will open the way for new diagnostic tools to help identify people at risk from the ailment and also lead to drugs able to block or reverse the genes malfunction.

The research is published in the journal Nature Genetics.